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'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations

Cystic fibrosis is a genetic disease that is associated with abnormal sweat electrolytes, sino-pulmonary disease, exocrine pancreatic insufficiency, and male infertility. Insights into genotype/phenotype relations have recently been gained in this disorder. The strongest relationship exists between...

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Detalles Bibliográficos
Autores principales: Noone, Peadar G, Knowles, Michael R
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2001
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC64805/
https://www.ncbi.nlm.nih.gov/pubmed/11737931
http://dx.doi.org/10.1186/rr82